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Page 1
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Among authors: schindewolf e. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: schindewolf e. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583 Free PMC article.
Amniocentesis in pregnancies at or beyond 24 weeks: an international multicenter study.
Zemet R, Maktabi MA, Tinfow A, Giordano JL, Heisler TM, Yan Q, Plaschkes R, Stokes J, Walsh JM, Corcoran S, Schindewolf E, Miller K, Talati AN, Miller KA, Blakemore K, Swanson K, Ramm J, Bedei I, Sparks TN, Jelin AC, Vora NL, Gebb JS, Crosby DA, Berkenstadt M, Weisz B, Wapner RJ, Van Den Veyver IB. Zemet R, et al. Among authors: schindewolf e. Am J Obstet Gynecol. 2025 Apr;232(4):402.e1-402.e16. doi: 10.1016/j.ajog.2024.06.025. Epub 2024 Jun 22. Am J Obstet Gynecol. 2025. PMID: 38914189 Free PMC article.
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. Sheppard SE, et al. Among authors: schindewolf e. JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888. JCI Insight. 2023. PMID: 37154160 Free PMC article.
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.
Goldmuntz E, Bassett AS, Boot E, Marino B, Moldenhauer JS, Óskarsdóttir S, Putotto C, Rychik J, Schindewolf E, McDonald-McGinn DM, Blagowidow N. Goldmuntz E, et al. Among authors: schindewolf e. Prenat Diagn. 2024 Jun;44(6-7):804-814. doi: 10.1002/pd.6566. Epub 2024 Apr 9. Prenat Diagn. 2024. PMID: 38593251 Free PMC article. Review.
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM. Blagowidow N, et al. Among authors: schindewolf e. Genes (Basel). 2023 Jan 6;14(1):160. doi: 10.3390/genes14010160. Genes (Basel). 2023. PMID: 36672900 Free PMC article. Review.
Mastering genetics for your clinic: A step-by-step guide.
Schindewolf E, Kilich G, Westerfer D, Vandergrift D, Rajagopalan R, Sullivan KE. Schindewolf E, et al. J Allergy Clin Immunol. 2025 Nov;156(5):1125-1132. doi: 10.1016/j.jaci.2025.07.027. Epub 2025 Aug 9. J Allergy Clin Immunol. 2025. PMID: 40789456 Review.
38 results